W66S (p.Trp66Ser) variant of NFKBIA (NF-kappa-B inhibitor alpha)
W66S (p.Trp66Ser) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Ectodermal dysplasia and immunodeficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
W66S (p.Trp66Ser) variant details
- p.Trp66Ser
- TOPMed rs2052766860
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.31
- MetaLR 0.19
- MetaSVM -0.72
- CADD 24.00
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available